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Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrationsHeterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesityGLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delayVariants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndromeExpanding the spectrum of phenotypes associated with germline PIGA mutationsA de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorderEffective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disordersRecurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesIdentification of human D lactate dehydrogenase deficiencyGermline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle controlLoss of syntaxin 3 causes variant microvillus inclusion diseaseABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
author
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type
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Gijs van Haaften
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van Haaften